Varaico: Literature-Extracted Genetic Variants

PCCA

221 papers

RefSeq Summary

The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PC...

Pfam Domains

Biotin_carb_Naa 62–171UCSCBiotin carboxylase, N-terminal domain

CPSase_L_D2aa 176–385UCSCCarbamoyl-phosphate synthase L chain, ATP binding domain

Biotin_carb_Caa 397–506UCSCBiotin carboxylase C-terminal domain

PCC_BTaa 525–653UCSCPropionyl-coenzyme A carboxylase BT domain

Biotin_lipoylaa 660–727UCSCBiotin-requiring enzyme

Gene Aliases

HGNC Name

propionyl-CoA carboxylase subunit alpha

HGNC Previous Name

propionyl Coenzyme A carboxylase, alpha polypeptide

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000282.4

p.R459_K464insFs

c.1375_1391dup17

Surrounding Variants

1 paper

NM_000282.4

p.E461Q

c.1381G>C

3 papers

NM_000282.4

p.G456V

c.1367G>T

1 paper

NM_000282.4

p.Y455delFs

c.1364_1365delAT

1 paper

NM_000282.4

p.A467G

c.1400C>G

1 paper

NM_000282.4

p.D468N

c.1402G>A

1 paper

NM_000282.4

p.D468G

c.1403A>G

6 papers

NM_000282.4

p.L470R

c.1409T>G

1 paper

NM_000282.4

p.D471V

c.1412A>T

1 paper

NM_000282.4

p.Y473C

c.1418A>G

1 paper

NM_000282.4

p.I475V

c.1423A>G

6 papers

NM_000282.4

p.R476*

c.1426C>T

2 papers

NM_000282.4

p.R476P

c.1427G>C